Lipid glycosylation defects

Gene	Gene locus MIM#	Function	Localization of defect	Disease	Inheritance	Initial molecular characterization (PMID)
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 (ST3GAL5)	604402	Alpha 2-3 Sialytransferase (GM3 synthase; adds sialic acid to lactosylceramide)	Golgi	Amish infantile epilepsy syndrome (salt and pepper syndrome)	AR	15502825
Beta-1,4-N-acetyl-galactosaminyltransferase 1 (B4GALNT1)	601873	Beta 1-4 GalNAc transferase (GM2/GD2 synthase; catalyzes transfer of N-acetylgalactosamine into GM3, GD3, and globotriaosylceramide by a beta-1,4 linkage)	Golgi	SPG26	AR	23746551
Alpha 1,4-galactosyltransferase (P blood group) (A4GALT)	607922	Alpha 1-4 Galactosyltransferase (GB3 synthase; transfers a galactose to the alpha-1,4 position of lactosylceramide)	Golgi	NOR polyagglutination syndrome	AD	22965229

AR: autosomal recessive; GalNAc: N-acetylglucosamine; SPG: spastic paraplegia; AD: autosomal dominant.

Adapted from: Ferreira CR, Altassan R, Marques-Da-Silva D, et al. Recognizable phenotypes in CDG. J Inherit Metab Dis 2018; 41:541.

Graphic 140154 Version 1.0